VWS1
MCID: VND007
MIFTS: 54

Van Der Woude Syndrome 1 (VWS1)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Van Der Woude Syndrome 1

MalaCards integrated aliases for Van Der Woude Syndrome 1:

Name: Van Der Woude Syndrome 1 57 75
Van Der Woude Syndrome 57 12 76 53 25 59 37 29 13 55 6 44 15 73
Lip-Pit Syndrome 57 12 25 59 75
Cleft Lip and/or Palate with Mucous Cysts of Lower Lip 57 53 25 75
Vdws 57 53 25 75
Lps 57 53 75
Vws 53 25 59
Vws1 57 75
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 44
Cleft Lip/palate with Mucous Cysts of Lower Lip 59
Van Der Woude Syndrome, Type 1 40
Lip-Pit Syndrome; Lps; Pit 57
Lip Pit Syndrome 53
Lip Pit 29
Pit 75

Characteristics:

Orphanet epidemiological data:

59
van der woude syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Finland),1-9/100000 (France),1-9/100000 (Australia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
van der woude syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 119300
Disease Ontology 12 DOID:0060239
ICD10 33 Q38.0
NCIt 50 C74986
SNOMED-CT 68 79261008
Orphanet 59 ORPHA888
UMLS via Orphanet 74 C0175697
ICD10 via Orphanet 34 Q38.0
MESH via Orphanet 45 C536528
MedGen 42 C0175697
KEGG 37 H01927

Summaries for Van Der Woude Syndrome 1

NIH Rare Diseases : 53 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. Growth and intelligence are usually normal. This condition is caused by mutations in the IRF6 gene and is inherited in a autosomal dominant fashion. Van der Woude syndrome represents the mild end of the spectrum of disorders known as IRF6-related disorders. At the more severe end of the spectrum is popliteal pterygium syndrome.

MalaCards based summary : Van Der Woude Syndrome 1, also known as van der woude syndrome, is related to popliteal pterygium syndrome and van der woude syndrome 2. An important gene associated with Van Der Woude Syndrome 1 is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Signaling by Slit and Hypothetical Craniofacial Development Pathway. Affiliated tissues include heart, salivary gland and brain, and related phenotypes are cleft palate and hypodontia

Disease Ontology : 12 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.

Genetics Home Reference : 25 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.

OMIM : 57 Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. (119300)

UniProtKB/Swiss-Prot : 75 Van der Woude syndrome 1: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.

Wikipedia : 76 Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits,... more...

Related Diseases for Van Der Woude Syndrome 1

Diseases in the Van Der Woude Syndrome 1 family:

Van Der Woude Syndrome 2

Diseases related to Van Der Woude Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 487)
# Related Disease Score Top Affiliating Genes
1 popliteal pterygium syndrome 32.8 TFAP2A IRF6 GRHL3
2 van der woude syndrome 2 31.9 GRHL3 CFAP57
3 chromosome 3pter-p25 deletion syndrome 31.2 SRGAP3 SRGAP2
4 cleft lip 31.0 TFAP2A IRF6 GRHL3
5 cleft palate, isolated 30.9 TFAP2A SATB2 IRF6 GRHL3
6 syngnathia 30.5 SATB2 IRF6
7 nemaline myopathy 3 12.5
8 remitting seronegative symmetrical synovitis with pitting edema 12.4
9 hypertelorism, preauricular sinus, punctal pits, and deafness 12.3
10 ear pits, posterior helical 12.2
11 optic disc pit 12.2
12 annular lichen planus 12.0
13 annular atrophic lichen planus 11.9
14 actinic lichen planus 11.8
15 atrophic lichen planus 11.8
16 rare lichen planus 11.7
17 kuster syndrome 11.5
18 reticulate acropigmentation of kitamura 11.5
19 lipoid proteinosis of urbach and wiethe 11.5
20 lichen planus pemphigoides 11.5
21 irf6-related disorders 11.4
22 preauricular fistulae, congenital 11.4
23 dental caries 11.4
24 lichen planus 11.3
25 amelogenesis imperfecta 11.3
26 lrba deficiency 11.3
27 lichen planus pigmentosus 11.3
28 linear lichen planus 11.3
29 basal cell nevus syndrome 11.2
30 psoriatic arthritis 11.2
31 preauricular sinus 11.2
32 branchiootorenal syndrome 1 11.2
33 beckwith-wiedemann syndrome 11.2
34 molluscum contagiosum 11.2
35 darier-white disease 11.2
36 coloboma of optic nerve 11.0
37 lachiewicz sibley syndrome 11.0
38 multiple self-healing squamous epithelioma 11.0
39 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.0
40 amelogenesis imperfecta, type ih 11.0
41 vulvovaginal gingival syndrome 11.0
42 acrokeratosis verruciformis 10.9
43 amelogenesis imperfecta, type ib 10.9
44 amelogenesis imperfecta, type ia 10.9
45 cat eye syndrome 10.9
46 foveal hypoplasia 1 10.9
47 nail disorder, nonsyndromic congenital, 1 10.9
48 witkop syndrome 10.9
49 trichodentoosseous syndrome 10.9
50 atrophoderma vermiculata 10.9

Graphical network of the top 20 diseases related to Van Der Woude Syndrome 1:



Diseases related to Van Der Woude Syndrome 1

Symptoms & Phenotypes for Van Der Woude Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate
cleft lip
lower lip pits
cleft uvula

Head And Neck Teeth:
hypodontia


Clinical features from OMIM:

119300

Human phenotypes related to Van Der Woude Syndrome 1:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
2 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
3 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
4 lower lip pit 59 32 frequent (33%) Frequent (79-30%) HP:0000196
5 bifid uvula 32 HP:0000193
6 abnormality of the salivary glands 59 Occasional (29-5%)
7 lip pit 59 Very frequent (99-80%)
8 abnormal salivary gland morphology 32 occasional (7.5%) HP:0010286

MGI Mouse Phenotypes related to Van Der Woude Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 ACTA1 GRHL3 IRF6 KMT2D SATB2 TFAP2A
2 limbs/digits/tail MP:0005371 9.35 CNTN2 GRHL3 IRF6 SATB2 TFAP2A
3 mortality/aging MP:0010768 9.28 ACTA1 F13A1 GRHL3 IRF6 KMT2D SATB2

Drugs & Therapeutics for Van Der Woude Syndrome 1

Search Clinical Trials , NIH Clinical Center for Van Der Woude Syndrome 1

Cochrane evidence based reviews: van der woude syndrome

Genetic Tests for Van Der Woude Syndrome 1

Genetic tests related to Van Der Woude Syndrome 1:

# Genetic test Affiliating Genes
1 Van Der Woude Syndrome 29 IRF6
2 Lip Pit 29

Anatomical Context for Van Der Woude Syndrome 1

MalaCards organs/tissues related to Van Der Woude Syndrome 1:

41
Heart, Salivary Gland, Brain, Lung, Kidney, Liver, Myeloid

Publications for Van Der Woude Syndrome 1

Articles related to Van Der Woude Syndrome 1:

(show top 50) (show all 154)
# Title Authors Year
1
Treatment of lower lip pits in Van der Woude syndrome: a systematic review. ( 29089202 )
2018
2
Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. ( 29115498 )
2018
3
Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case. ( 29569458 )
2018
4
Genetic heterogeneity in Van der Woude syndrome: identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families. ( 29666346 )
2018
5
Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. ( 29708799 )
2018
6
Concurrent Van der Woude syndrome and Turner syndrome: A case report. ( 28228961 )
2017
7
Surgical management of lower lip pits in Van der Woude syndrome. ( 28893716 )
2017
8
Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report. ( 28875142 )
2017
9
A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. ( 27243668 )
2016
10
Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome. ( 27115562 )
2016
11
Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort. ( 27129939 )
2016
12
Multidisciplinary management of a patient with van der Woude syndrome: A case report. ( 28012331 )
2016
13
Management of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index. ( 27321409 )
2016
14
Craniofacial morphology in children with van der Woude syndrome and isolated cleft palate. ( 25516228 )
2014
15
Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital. ( 24647295 )
2014
16
Van der woude syndrome (lip pit-cleft lip syndrome). ( 24461788 )
2014
17
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. ( 24936515 )
2014
18
Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development. ( 24360809 )
2014
19
Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family. ( 25579819 )
2014
20
Van der woude syndrome with short review of the literature. ( 25050184 )
2014
21
Van der Woude syndrome: Management in the mixed dentition. ( 23853466 )
2013
22
Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. ( 23713753 )
2013
23
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. ( 23154523 )
2013
24
De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus. ( 23915469 )
2013
25
Inverted-T lip reduction for lower lip repair in Van der Woude syndrome: a review and comparison of aesthetic results. ( 23290085 )
2013
26
Congenital lower lip pits (van der Woude syndrome): what pathologists need to know. ( 23947719 )
2013
27
Van der Woude syndrome: report of two cases with supplementary findings. ( 24025891 )
2013
28
An alternative technique using a gutta percha points and blue methylene to excision of congenital fistula of lower lip in patient with Van der Woude syndrome. ( 23037784 )
2012
29
A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome. ( 21995291 )
2012
30
Van der Woude syndrome- a syndromic form of orofacial clefting. ( 24558537 )
2012
31
Van der woude syndrome associated with hypodontia: a rare clinical entity. ( 23326687 )
2012
32
Van der Woude syndrome with an unusual intraoral finding. ( 21525698 )
2011
33
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. ( 21574244 )
2011
34
Monozygotic twins with variable expression of Van der Woude syndrome. ( 21739575 )
2011
35
IRF6 mutations may not be a major cause of Van der Woude syndrome in India. ( 20845047 )
2011
36
Oral and maxillofacial pathology. Case of the month. Van der Woude syndrome (VWS). ( 21957792 )
2011
37
Novel IRF6 mutations in Honduran Van der Woude syndrome patients. ( 21468557 )
2011
38
Symmetric lower lip pits - Van Der Woude syndrome. ( 21999450 )
2011
39
Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. ( 20196077 )
2010
40
Wound complications after cleft repair in children with Van der Woude syndrome. ( 20856020 )
2010
41
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. ( 19536562 )
2010
42
The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. ( 20660977 )
2010
43
Highlighted article: "identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse" by Stottmann, Bjork, Doyle, and Beier. ( 20461822 )
2010
44
Van der Woude syndrome: dentofacial features and implications for clinical practice. ( 20415912 )
2010
45
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome. ( 20856073 )
2010
46
Lower lip pits in a patient with van der Woude syndrome. ( 20818247 )
2010
47
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. ( 20184620 )
2010
48
Isolated lower lip fistulas in Van der Woude syndrome. ( 19816310 )
2009
49
Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India. ( 19929101 )
2009
50
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. ( 19623037 )
2009

Variations for Van Der Woude Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Van Der Woude Syndrome 1:

75 (show all 34)
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Ala2Val VAR_014961 rs28942093
2 IRF6 p.Val18Ala VAR_014962
3 IRF6 p.Val18Met VAR_014963
4 IRF6 p.Pro39Ala VAR_014964
5 IRF6 p.Ala61Gly VAR_014966
6 IRF6 p.Gly70Arg VAR_014968 rs776236749
7 IRF6 p.Pro76Ser VAR_014969 rs886039388
8 IRF6 p.Asn88His VAR_014973
9 IRF6 p.Ser90Gly VAR_014975
10 IRF6 p.Asp98His VAR_014976
11 IRF6 p.Arg250Gln VAR_014977
12 IRF6 p.Gln273Arg VAR_014978
13 IRF6 p.Leu294Pro VAR_014981
14 IRF6 p.Val297Ile VAR_014982
15 IRF6 p.Lys320Glu VAR_014983
16 IRF6 p.Val321Met VAR_014984
17 IRF6 p.Gly325Glu VAR_014985
18 IRF6 p.Leu345Pro VAR_014986
19 IRF6 p.Cys347Phe VAR_014987
20 IRF6 p.Phe369Ser VAR_014988
21 IRF6 p.Cys374Trp VAR_014989
22 IRF6 p.Lys388Glu VAR_014990
23 IRF6 p.Arg6Cys VAR_030046 rs28942094
24 IRF6 p.Ala16Val VAR_030047
25 IRF6 p.Leu22Pro VAR_030048 rs387906967
26 IRF6 p.Arg45Gln VAR_030049 rs121434229
27 IRF6 p.Thr64Ile VAR_030050
28 IRF6 p.Arg84Gly VAR_030051
29 IRF6 p.Thr100Ala VAR_030052
30 IRF6 p.Leu251Pro VAR_030053
31 IRF6 p.Glu349Val VAR_030054
32 IRF6 p.Pro396Ser VAR_030055 rs121434230
33 IRF6 p.Arg400Trp VAR_030056 rs28942095
34 IRF6 p.Arg339Ile VAR_059080 rs121434231

ClinVar genetic disease variations for Van Der Woude Syndrome 1:

6 (show top 50) (show all 197)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF6 NM_006147.3(IRF6): c.274G> T (p.Glu92Ter) single nucleotide variant Pathogenic rs121434224 GRCh37 Chromosome 1, 209969798: 209969798
2 IRF6 NM_006147.3(IRF6): c.274G> T (p.Glu92Ter) single nucleotide variant Pathogenic rs121434224 GRCh38 Chromosome 1, 209796453: 209796453
3 IRF6 NM_006147.3(IRF6): c.870_888del19insA (p.Phe290_Asp296delinsLeu) indel Pathogenic rs587776569 GRCh37 Chromosome 1, 209964012: 209964030
4 IRF6 NM_006147.3(IRF6): c.870_888del19insA (p.Phe290_Asp296delinsLeu) indel Pathogenic rs587776569 GRCh38 Chromosome 1, 209790667: 209790685
5 IRF6 NM_006147.3(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh37 Chromosome 1, 209969822: 209969822
6 IRF6 NM_006147.3(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh38 Chromosome 1, 209796477: 209796477
7 IRF6 NM_006147.3(IRF6): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs28942093 GRCh37 Chromosome 1, 209974754: 209974754
8 IRF6 NM_006147.3(IRF6): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs28942093 GRCh38 Chromosome 1, 209801409: 209801409
9 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh37 Chromosome 1, 209974743: 209974743
10 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh38 Chromosome 1, 209801398: 209801398
11 IRF6 NM_006147.3(IRF6): c.1137G> A (p.Trp379Ter) single nucleotide variant Pathogenic rs121434228 GRCh37 Chromosome 1, 209963054: 209963054
12 IRF6 NM_006147.3(IRF6): c.1137G> A (p.Trp379Ter) single nucleotide variant Pathogenic rs121434228 GRCh38 Chromosome 1, 209789709: 209789709
13 IRF6 NM_006147.3(IRF6): c.1198C> T (p.Arg400Trp) single nucleotide variant Pathogenic rs28942095 GRCh37 Chromosome 1, 209961971: 209961971
14 IRF6 NM_006147.3(IRF6): c.1198C> T (p.Arg400Trp) single nucleotide variant Pathogenic rs28942095 GRCh38 Chromosome 1, 209788626: 209788626
15 IRF6 NC_000001.11: g.209782473_209799634del17162 deletion Pathogenic GRCh38 Chromosome 1, 209782473: 209799634
16 IRF6 NM_006147.3(IRF6): c.134G> A (p.Arg45Gln) single nucleotide variant Pathogenic rs121434229 GRCh37 Chromosome 1, 209974625: 209974625
17 IRF6 NM_006147.3(IRF6): c.134G> A (p.Arg45Gln) single nucleotide variant Pathogenic rs121434229 GRCh38 Chromosome 1, 209801280: 209801280
18 IRF6 NM_006147.3(IRF6): c.1186C> T (p.Pro396Ser) single nucleotide variant Pathogenic rs121434230 GRCh37 Chromosome 1, 209961983: 209961983
19 IRF6 NM_006147.3(IRF6): c.1186C> T (p.Pro396Ser) single nucleotide variant Pathogenic rs121434230 GRCh38 Chromosome 1, 209788638: 209788638
20 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh37 Chromosome 1, 209963884: 209963884
21 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh38 Chromosome 1, 209790539: 209790539
22 ACTA1 NM_001100.3(ACTA1): c.49G> C (p.Gly17Arg) single nucleotide variant Pathogenic rs121909521 GRCh37 Chromosome 1, 229568814: 229568814
23 ACTA1 NM_001100.3(ACTA1): c.49G> C (p.Gly17Arg) single nucleotide variant Pathogenic rs121909521 GRCh38 Chromosome 1, 229433067: 229433067
24 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh37 Chromosome 1, 209974694: 209974694
25 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh38 Chromosome 1, 209801349: 209801349
26 IRF6 NM_006147.3(IRF6): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs397515434 GRCh37 Chromosome 1, 209974614: 209974614
27 IRF6 NM_006147.3(IRF6): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs397515434 GRCh38 Chromosome 1, 209801269: 209801269
28 IRF6 NM_006147.3(IRF6): c.1199G> A (p.Arg400Gln) single nucleotide variant Pathogenic rs200166664 GRCh37 Chromosome 1, 209961970: 209961970
29 IRF6 NM_006147.3(IRF6): c.1199G> A (p.Arg400Gln) single nucleotide variant Pathogenic rs200166664 GRCh38 Chromosome 1, 209788625: 209788625
30 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh37 Chromosome 1, 209961959: 209961959
31 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh38 Chromosome 1, 209788614: 209788614
32 IRF6 NM_006147.3(IRF6): c.1153T> C (p.Leu385=) single nucleotide variant Benign rs61099902 GRCh37 Chromosome 1, 209963038: 209963038
33 IRF6 NM_006147.3(IRF6): c.1153T> C (p.Leu385=) single nucleotide variant Benign rs61099902 GRCh38 Chromosome 1, 209789693: 209789693
34 IRF6 NM_006147.3(IRF6): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs2235371 GRCh37 Chromosome 1, 209964080: 209964080
35 IRF6 NM_006147.3(IRF6): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs2235371 GRCh38 Chromosome 1, 209790735: 209790735
36 IRF6 NM_006147.3(IRF6): c.759T> C (p.Tyr253=) single nucleotide variant Likely benign rs41303263 GRCh37 Chromosome 1, 209964141: 209964141
37 IRF6 NM_006147.3(IRF6): c.759T> C (p.Tyr253=) single nucleotide variant Likely benign rs41303263 GRCh38 Chromosome 1, 209790796: 209790796
38 IRF6 NM_006147.3(IRF6): c.459G> T (p.Ser153=) single nucleotide variant Benign rs2013162 GRCh37 Chromosome 1, 209968684: 209968684
39 IRF6 NM_006147.3(IRF6): c.459G> T (p.Ser153=) single nucleotide variant Benign rs2013162 GRCh38 Chromosome 1, 209795339: 209795339
40 IRF6 NM_006147.3(IRF6): c.175-5C> G single nucleotide variant Benign rs7552506 GRCh37 Chromosome 1, 209969902: 209969902
41 IRF6 NM_006147.3(IRF6): c.175-5C> G single nucleotide variant Benign rs7552506 GRCh38 Chromosome 1, 209796557: 209796557
42 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh37 Chromosome 1, 209969846: 209969846
43 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh38 Chromosome 1, 209796501: 209796501
44 IRF6 NM_006147.3(IRF6): c.*2472G> A single nucleotide variant Likely benign rs188593210 GRCh38 Chromosome 1, 209785948: 209785948
45 IRF6 NM_006147.3(IRF6): c.*2472G> A single nucleotide variant Likely benign rs188593210 GRCh37 Chromosome 1, 209959293: 209959293
46 IRF6 NM_006147.3(IRF6): c.*1678delT deletion Benign rs141112353 GRCh37 Chromosome 1, 209960087: 209960087
47 IRF6 NM_006147.3(IRF6): c.*1678delT deletion Benign rs141112353 GRCh38 Chromosome 1, 209786742: 209786742
48 IRF6 NM_006147.3(IRF6): c.*1473C> G single nucleotide variant Likely benign rs531092939 GRCh37 Chromosome 1, 209960292: 209960292
49 IRF6 NM_006147.3(IRF6): c.*1473C> G single nucleotide variant Likely benign rs531092939 GRCh38 Chromosome 1, 209786947: 209786947
50 IRF6 NM_006147.3(IRF6): c.*1265G> C single nucleotide variant Likely benign rs149425923 GRCh37 Chromosome 1, 209960500: 209960500

Copy number variations for Van Der Woude Syndrome 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 26163 1 197500000 222100000 Microdeletion van der Woude syndrome
2 26164 1 197500000 222100000 Microdeletion IRF6 van der Woude syndrome

Expression for Van Der Woude Syndrome 1

Search GEO for disease gene expression data for Van Der Woude Syndrome 1.

Pathways for Van Der Woude Syndrome 1

Pathways related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 SRGAP2 SRGAP3
2 9.53 IRF6 TFAP2A

GO Terms for Van Der Woude Syndrome 1

Biological processes related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.46 GRHL3 IRF6 SATB2 TFAP2A
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.35 GRHL3 IRF6 KMT2D SATB2 TFAP2A
3 eyelid development in camera-type eye GO:0061029 8.62 GRHL3 TFAP2A

Molecular functions related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.26 GRHL3 IRF6 SATB2 TFAP2A
2 Rac GTPase binding GO:0048365 9.16 SRGAP2 SRGAP3
3 transcription regulatory region DNA binding GO:0044212 8.8 IRF6 KMT2D TFAP2A

Sources for Van Der Woude Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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